Product Details

Assay Reference Genome
Location

Chr.2:218278533 on build GRCh38
Cytoband
2q35
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
25953
Gene Symbol
PNKD
Gene Name
paroxysmal nonkinesigenic dyskinesia
Gene Aliases
BRP17, DYT8, FKSG19, FPD1, KIPP1184, MR-1, MR1, PDC, PKND1, TAHCCP2
Location
Chr.2:218270392-218346793 on build GRCh38
Assay Gene Location
Within Intron 3
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
PNKD NM_015488.4 NP_056303.3
XM_017003771.1 XP_016859260.1
AB033010.1 BAA86498.1
AK289867.1
BC036457.2 AAH36457.1
Entrez Gene ID
64114
Gene Symbol
TMBIM1
Gene Name
transmembrane BAX inhibitor motif containing 1
Gene Aliases
LFG3, MST100, MSTP100, PP1201, RECS1
Location
Chr.2:218274192-218292577 on build GRCh38
Assay Gene Location
Overlaps Intron 10 - Intron 11
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
TMBIM1 NM_001321427.1 NP_001308356.1
NM_001321428.1 NP_001308357.1
NM_001321429.1 NP_001308358.1
NM_001321430.1 NP_001308359.1
NM_001321432.1 NP_001308361.1
NM_001321433.1 NP_001308362.1
NM_001321435.1 NP_001308364.1
NM_001321436.1 NP_001308365.1
NM_001321438.1 NP_001308367.1
NM_022152.5 NP_071435.2
NR_135643.1
XM_011511627.1 XP_011509929.1
AB257295.1
AF193045.1 AAG22473.1
AK027755.1 BAB55346.1
AK075465.1 BAC11636.1
AK090618.1
AK093911.1
AK130380.1
AK130713.1
AK298123.1
AK298500.1
AK300597.1
BC007980.2 AAH07980.1
BC013428.1 AAH13428.1
BC026348.1 AAH26348.1
BC026693.2 AAH26693.1
CF994144.1

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